ClinVar Miner

Submissions for variant NM_000312.4(PROC):c.497A>G (p.Tyr166Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280946 SCV002569209 likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant criteria provided, single submitter clinical testing

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